Black burden or Taylor the saviour: A case report

Abstract

Alkaptonuria, also called Black bone disease or Black urine disease is a rare metabolic disorder due to a deficiency of the enzyme Homogentisate 1,2 dioxygenase, which helps in tyrosine metabolism. Homogentisic acid gets converted to maleylacetoacetic acid with the help of this enzyme Homogentisate 1,2 dioxygenase. Hence deficiency of the enzyme leads to the accumulation of metabolite Homogentisic acid, in the tyrosine pathway. This accumulation may cause various manifestations in different parts of the body. Mostly they present with arthropathy, and most patients present with musculoskeletal issues and land up in orthopaedic surgeries. Clinical presentation of this disease should be kept in mind because arthropathy of the spine makes difficult access to subarachnoid space, thus posing challenge to anaesthesiologist. Ochronosis is the bluish-black discoloration of certain tissues, such as the ear cartilage and the ocular tissue, seen with alkaptonuria.